Variant #0000573389 (NC_000023.10:g.127186076G>T, ACTRT1(NM_138289.3):c.110C>A)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.127186076G>T
DNA change (hg38) g.128052097G>T
Published as ACTRT1(NM_138289.3):c.110C>A (p.(Ser37Tyr))
ISCN -
DB-ID ACTRT1_000012
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ACTRT1 NM_138289.3 ?/. - c.110C>A r.(?) p.(Ser37Tyr)